Variant report

Variant	rs35446771
Chromosome Location	chr7:150759420-150759421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150754493-150760694	K562	blood:	n/a	n/a
2	POLR2A	chr7:150759169-150759926	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr7:150759265-150759878	HepG2	liver:	n/a	n/a
4	MAX	chr7:150759078-150759991	H1-hESC	embryonic stem cell:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561
5	EP300	chr7:150759124-150759933	A549	lung:	n/a	n/a
6	TAF1	chr7:150759338-150760311	HepG2	liver:	n/a	n/a
7	TAF1	chr7:150759249-150760330	K562	blood:	n/a	n/a
8	EP300	chr7:150759365-150760258	HepG2	liver:	n/a	n/a
9	ATF3	chr7:150759300-150759792	A549	lung:	n/a	chr7:150759659-150759679
10	POLR2A	chr7:150759259-150760197	HepG2	liver:	n/a	n/a
11	USF1	chr7:150759227-150760152	HCT-116	colon:	n/a	chr7:150760120-150760136 chr7:150759659-150759668 chr7:150759659-150759668 chr7:150759658-150759667 chr7:150759657-150759670 chr7:150759658-150759669 chr7:150759660-150759669
12	TBL1XR1	chr7:150759276-150759696	K562	blood:	n/a	n/a
13	YY1	chr7:150759319-150759821	K562	blood:	n/a	n/a
14	POLR2A	chr7:150754758-150760600	K562	blood:	n/a	n/a
15	POLR2A	chr7:150758843-150760346	A549	lung:	n/a	n/a
16	USF1	chr7:150759280-150760012	K562	blood:	n/a	chr7:150759659-150759668 chr7:150759659-150759668 chr7:150759658-150759667 chr7:150759657-150759670 chr7:150759658-150759669 chr7:150759660-150759669
17	SIN3AK20	chr7:150759129-150759771	PANC-1	pancreas:	n/a	n/a
18	HDAC2	chr7:150759102-150759665	K562	blood:	n/a	n/a
19	SP4	chr7:150759213-150759908	H1-hESC	embryonic stem cell:	n/a	chr7:150759688-150759704 chr7:150759502-150759518 chr7:150759504-150759520 chr7:150759532-150759543
20	POLR2A	chr7:150758461-150759745	K562	blood:	n/a	n/a
21	USF2	chr7:150759328-150759849	K562	blood:	n/a	chr7:150759659-150759668 chr7:150759659-150759668 chr7:150759658-150759667 chr7:150759657-150759670 chr7:150759660-150759669 chr7:150759550-150759561
22	MAX	chr7:150757707-150759926	A549	lung:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561 chr7:150758470-150758480
23	BACH1	chr7:150759405-150759670	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr7:150759071-150760043	H1-hESC	embryonic stem cell:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561
25	REST	chr7:150758908-150759503	A549	lung:	n/a	chr7:150759461-150759474
26	ZBTB7A	chr7:150756227-150760413	K562	blood:	n/a	chr7:150757231-150757239 chr7:150758070-150758079 chr7:150757085-150757094
27	SP1	chr7:150759359-150760267	HepG2	liver:	n/a	chr7:150759543-150759552 chr7:150759689-150759703 chr7:150759532-150759544 chr7:150759690-150759699 chr7:150759505-150759515 chr7:150759837-150759847 chr7:150760149-150760163 chr7:150759532-150759544 chr7:150759504-150759516 chr7:150759688-150759700 chr7:150759504-150759516 chr7:150759532-150759543 chr7:150759505-150759515 chr7:150759998-150760012 chr7:150759533-150759542
28	MAX	chr7:150759332-150760200	HepG2	liver:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561
29	MYC	chr7:150759394-150759809	MCF10A-Er-Src	breast:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561
30	CCNT2	chr7:150759308-150759874	K562	blood:	n/a	chr7:150759690-150759699
31	MAX	chr7:150758741-150760286	K562	blood:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561
32	ATF3	chr7:150759344-150759776	K562	blood:	n/a	chr7:150759659-150759679
33	YY1	chr7:150759201-150759980	A549	lung:	n/a	n/a
34	SP1	chr7:150759025-150760261	A549	lung:	n/a	chr7:150759543-150759552 chr7:150759689-150759703 chr7:150759532-150759544 chr7:150759690-150759699 chr7:150759505-150759515 chr7:150759837-150759847 chr7:150760149-150760163 chr7:150759532-150759544 chr7:150759504-150759516 chr7:150759688-150759700 chr7:150759504-150759516 chr7:150759320-150759333 chr7:150759532-150759543 chr7:150759505-150759515 chr7:150759998-150760012 chr7:150759533-150759542
35	MAX	chr7:150759012-150760783	HepG2	liver:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561
36	SP1	chr7:150759222-150759908	H1-hESC	embryonic stem cell:	n/a	chr7:150759543-150759552 chr7:150759689-150759703 chr7:150759532-150759544 chr7:150759690-150759699 chr7:150759505-150759515 chr7:150759837-150759847 chr7:150759532-150759544 chr7:150759504-150759516 chr7:150759688-150759700 chr7:150759504-150759516 chr7:150759320-150759333 chr7:150759532-150759543 chr7:150759505-150759515 chr7:150759533-150759542
37	CTCF	chr7:150759365-150759564	K562	blood:	n/a	chr7:150759544-150759562 chr7:150759546-150759559
38	ZBTB7A	chr7:150758844-150760744	K562	blood:	n/a	n/a
39	POLR2A	chr7:150759233-150759886	A549	lung:	n/a	n/a
40	MYBL2	chr7:150759235-150760126	HepG2	liver:	n/a	n/a
41	MXI1	chr7:150754410-150760844	IMR90	lung:	n/a	chr7:150759550-150759559 chr7:150759552-150759561 chr7:150760584-150760593 chr7:150759552-150759561
42	MAX	chr7:150758883-150760256	H1-hESC	embryonic stem cell:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561
43	ZMIZ1	chr7:150759213-150759737	K562	blood:	n/a	n/a
44	USF1	chr7:150759232-150759951	K562	blood:	n/a	chr7:150759659-150759668 chr7:150759659-150759668 chr7:150759658-150759667 chr7:150759657-150759670 chr7:150759658-150759669 chr7:150759660-150759669
45	RAD21	chr7:150759273-150759493	A549	lung:	n/a	n/a
46	REST	chr7:150759225-150759818	K562	blood:	n/a	chr7:150759461-150759474
47	MYC	chr7:150759316-150760487	Hela-S3	cervix:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561
48	MYC	chr7:150758762-150760626	K562	blood:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561
49	EGR1	chr7:150759197-150759723	K562	blood:	n/a	chr7:150759545-150759555
50	RFX5	chr7:150759280-150759723	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:33166816..33168593-chr7:150759219..150760727,2	MCF-7	breast:
2	chr3:64252018..64254235-chr7:150757748..150760027,2	MCF-7	breast:
3	chr7:150756584..150759484-chr7:151213825..151215971,2	MCF-7	breast:
4	chr17:56707568..56709230-chr7:150758824..150761309,2	MCF-7	breast:
5	chr7:150066102..150068231-chr7:150757822..150759698,2	MCF-7	breast:

Variant related genes	Relation type
SLC4A2	TF binding region
CDK5	TF binding region
ENSG00000212195	Chromatin interaction
ENSG00000204231	Chromatin interaction
ENSG00000214022	Chromatin interaction
ENSG00000163637	Chromatin interaction
ENSG00000106615	Chromatin interaction
ENSG00000202441	Chromatin interaction
ENSG00000112473	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs34026616	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs34673220	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
8	nsv526410	chr7:150714812-150775306	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
10	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
11	nsv524928	chr7:150731698-150766799	Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
13	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
14	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
15	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
16	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
17	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
18	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
19	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
20	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150757400-150760000	Flanking Active TSS	Rectal Smooth Muscle	rectum
2	chr7:150757400-150760200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:150757400-150760200	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr7:150757400-150760200	Flanking Active TSS	NH-A	brain
5	chr7:150757400-150760400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:150757600-150759800	Flanking Active TSS	Fetal Heart	heart
7	chr7:150757600-150760200	Flanking Active TSS	HMEC	breast
8	chr7:150757800-150759600	Enhancers	Stomach Mucosa	stomach
9	chr7:150757800-150760200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:150757800-150760800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:150757800-150760800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr7:150757800-150761600	Weak transcription	Aorta	Aorta
13	chr7:150758000-150759600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:150758000-150759600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:150758000-150759600	Enhancers	Right Atrium	heart
16	chr7:150758000-150760000	Enhancers	Ovary	ovary
17	chr7:150758000-150760800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:150758000-150760800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:150758000-150760800	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr7:150758200-150759600	Enhancers	Gastric	stomach
21	chr7:150758200-150759800	Enhancers	Left Ventricle	heart
22	chr7:150758200-150760400	Weak transcription	Fetal Kidney	kidney
23	chr7:150758200-150760800	Enhancers	Adipose Nuclei	Adipose
24	chr7:150758200-150760800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr7:150758200-150760800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr7:150758200-150761000	Enhancers	Fetal Muscle Trunk	muscle
27	chr7:150758200-150761200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:150758200-150761600	Weak transcription	Psoas Muscle	Psoas
29	chr7:150758200-150762000	Weak transcription	Primary T cells from cord blood	blood
30	chr7:150758400-150759600	Weak transcription	Small Intestine	intestine
31	chr7:150758400-150760200	Flanking Active TSS	HSMM	muscle
32	chr7:150758400-150760600	Enhancers	NHDF-Ad	bronchial
33	chr7:150758400-150761600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:150758400-150761600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:150758400-150761800	Weak transcription	Fetal Brain Female	brain
36	chr7:150758400-150764000	Weak transcription	Primary B cells from cord blood	blood
37	chr7:150758400-150776000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:150758600-150759800	Genic enhancers	Dnd41	blood
39	chr7:150758600-150760000	Flanking Active TSS	HSMMtube	muscle
40	chr7:150758600-150760600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:150758600-150760800	Genic enhancers	Fetal Muscle Leg	muscle
42	chr7:150758600-150761200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:150758600-150761600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:150758600-150764600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr7:150758600-150766600	Weak transcription	Brain Angular Gyrus	brain
46	chr7:150758800-150759600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:150758800-150759600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr7:150758800-150759600	Genic enhancers	Fetal Intestine Small	intestine
49	chr7:150758800-150759600	Genic enhancers	Fetal Stomach	stomach
50	chr7:150758800-150760000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin

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